Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02615:Ighv1-64'

300614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-64

Ensembl Gene

ENSMUSG00000094088

Gene Name

immunoglobulin heavy variable 1-64

Synonyms

Gm16865

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL02615

Quality Score

Status

Chromosome

Chromosomal Location

115471207-115471597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115471307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 70 (I70T)

Ref Sequence

ENSEMBL: ENSMUSP00000100316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103535]

AlphaFold

A0A075B5X3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103535
AA Change: I70T

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100316
Gene: ENSMUSG00000094088
AA Change: I70T

Domain	Start	End	E-Value	Type
IGv	36	117	2.29e-30	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,644,402 (GRCm39)	E96*	probably null	Het
Adck5	C	T	15: 76,473,367 (GRCm39)	S72L	possibly damaging	Het
Afdn	A	G	17: 14,046,238 (GRCm39)	H404R	probably benign	Het
Aph1c	A	T	9: 66,726,688 (GRCm39)	V222E	possibly damaging	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Bcl2l13	A	T	6: 120,839,828 (GRCm39)	D42V	probably damaging	Het
Bhlhe22	C	T	3: 18,109,064 (GRCm39)	T38I	possibly damaging	Het
Ccdc51	A	T	9: 108,918,503 (GRCm39)	T31S	probably benign	Het
Ctbp2	A	G	7: 132,597,076 (GRCm39)	I669T	probably benign	Het
Dennd4c	A	G	4: 86,739,704 (GRCm39)	T998A	probably benign	Het
Dpp4	T	C	2: 62,189,672 (GRCm39)	Y410C	probably damaging	Het
Gli2	T	A	1: 118,772,128 (GRCm39)	N526Y	probably damaging	Het
Mphosph10	A	T	7: 64,030,793 (GRCm39)		probably benign	Het
Mrps34	A	G	17: 25,114,767 (GRCm39)		probably null	Het
Myo1f	A	T	17: 33,823,630 (GRCm39)	I1053L	probably benign	Het
Nckap5l	G	A	15: 99,327,263 (GRCm39)	P142L	possibly damaging	Het
Platr26	T	A	2: 71,560,770 (GRCm39)		noncoding transcript	Het
Rag2	T	A	2: 101,459,913 (GRCm39)	Y74*	probably null	Het
Rnf213	A	T	11: 119,331,615 (GRCm39)	M2275L	probably damaging	Het
Rsbn1	T	A	3: 103,861,068 (GRCm39)	L498Q	probably damaging	Het
Scp2	A	G	4: 107,964,828 (GRCm39)	V62A	probably benign	Het
Spag17	A	G	3: 99,979,401 (GRCm39)	I1421V	probably benign	Het
Spata31f1e	C	T	4: 42,793,027 (GRCm39)	M368I	probably benign	Het
St6galnac4	A	G	2: 32,484,216 (GRCm39)	H138R	probably benign	Het
Syne2	T	A	12: 76,143,768 (GRCm39)	M1045K	probably damaging	Het
Tbxas1	C	T	6: 39,004,800 (GRCm39)	T349M	probably damaging	Het
U2surp	T	G	9: 95,375,284 (GRCm39)	D146A	probably benign	Het
Usp38	T	C	8: 81,711,780 (GRCm39)	M752V	probably benign	Het

Other mutations in Ighv1-64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ighv1-64	APN	12	115,471,596 (GRCm39)	start codon destroyed	probably null	1.00
IGL02355:Ighv1-64	APN	12	115,471,236 (GRCm39)	missense	probably benign	0.01
IGL02362:Ighv1-64	APN	12	115,471,236 (GRCm39)	missense	probably benign	0.01
IGL03085:Ighv1-64	APN	12	115,471,461 (GRCm39)	missense	possibly damaging	0.79
R4724:Ighv1-64	UTSW	12	115,471,466 (GRCm39)	missense	probably benign	0.02
R4829:Ighv1-64	UTSW	12	115,471,346 (GRCm39)	missense	probably benign
R8080:Ighv1-64	UTSW	12	115,471,463 (GRCm39)	missense	probably benign	0.00
R8459:Ighv1-64	UTSW	12	115,471,256 (GRCm39)	missense	probably benign	0.00
R8735:Ighv1-64	UTSW	12	115,471,217 (GRCm39)	missense	probably benign	0.18
R9324:Ighv1-64	UTSW	12	115,471,645 (GRCm39)	start gained	probably benign
Z1177:Ighv1-64	UTSW	12	115,471,286 (GRCm39)	missense	probably benign	0.07

Posted On

2015-04-16